Analytic results management database

Abstract

According to one aspect, systems and processes for managing stored genomic sequencing data are provided. In exemplary process, a trigger related to a call review event is detected, where at least one portion of a denormalized data structure is accessed based on the detected trigger. In response the accessing, the at least one portion of the denormalized data structure is transformed into a normalized data structure. A user request associated with the at least one portion of the denormalized data structure is received. The normalized data structure is accessed in response to the user request, and information contained within the normalized data structure is then displayed on a display screen.

What is claimed is: 
     
         1 . A computer-implemented method of managing stored genomic sequencing data, the method comprising:
 detecting a trigger related to a call review event;   accessing, based on the detected trigger, at least one portion of a denormalized data structure;   transforming the at least one portion of the denormalized data structure into a normalized data structure in response to the accessing;   receiving a first user request associated with the at least one portion of the denormalized data structure;   accessing the normalized data structure in response to the first user request; and   displaying, on a display screen, data contained within the normalized data structure.   
     
     
         2 . The method of  claim 1 , further comprising:
 receiving a second user request associated with the displayed data;   creating, based on the second user request, an entry in the denormalized data structure;   transforming at least one second portion of the denormalized data structure, the at least one second portion including the entry;   updating the normalized data structure based at least in part on the transforming of the at least one second portion; and   displaying, on the display screen, data contained in the updated normalized data structure.   
     
     
         3 . The method of  claim 2 , wherein the second user request is related to a data modification operation including a call review override procedure. 
     
     
         4 . The method of  claim 1 , further comprising:
 receiving a second user request related to terminating call review; and   associating the normalized data structure with a deletion operation in response to the second user request.   
     
     
         5 . The method of  claim 1 , wherein the first user request is related to initiating a data review procedure. 
     
     
         6 . The method of  claim 1 , further comprising:
 identifying at least one normalized data structure associated with an idle time which exceeds a threshold; and   removing the identified at least one normalized data structure from memory.   
     
     
         7 . The method of  claim 1 , wherein the normalized data structure is maintained based on a first schema, the method further comprising:
 generating a second normalized data structure, wherein the second normalized data structure utilizes a second schema different from the first schema.   
     
     
         8 . The method of  claim 1 , wherein transforming includes using at least one JavaScript Object Notation B (JSONB) type operation. 
     
     
         9 . The method of  claim 1 , wherein transforming includes merging at least two database elements using a join query. 
     
     
         10 . The method of  claim 1 , wherein the denormalized data structure is maintained based on a first schema, and the normalized data structure is maintained based on a second schema different from the first schema. 
     
     
         11 . The method of  claim 1 , wherein generating the normalized data structure includes using an inheritance function based on at least one portion of denormalized data. 
     
     
         12 . The method of  claim 1 , wherein maintaining the denormalized data structure includes using a migration function. 
     
     
         13 . The method of  claim 1 , wherein updating the normalized data structure includes updating at least one row of data within the normalized data structure. 
     
     
         14 . The method of  claim 1 , wherein a set of denormalized data includes one entry associated with one sequencing result, and a corresponding set of normalized data includes 1,000 entries associated with 1,000 variant calls for the one sequencing result. 
     
     
         15 . The method of  claim 1 , wherein the trigger related to a call review event is associated with at least one of: an assignment of a batch of samples, a creation of denormalized data, a second user request, or a batch loading operation. 
     
     
         16 . The method of  claim 1 , further comprising:
 detecting a trigger related to a sample reporting event;   accessing, based on the detected trigger related to a sample reporting event, at least one set of information for facilitating sample reporting.   
     
     
         17 . The method of  claim 16 , wherein accessing at least one set of information for facilitating sample reporting further comprises:
 transforming at least one second portion of the denormalized data structure into a second normalized data structure; and   generating at least one sample report based on the second normalized data structure.   
     
     
         18 . The method of  claim 16 , wherein accessing at least one set of information for facilitating sample reporting further comprises:
 accessing at least one second portion of the denormalized data structure; and   generating at least one sample report based on the at least one second portion of denormalized data structure.   
     
     
         19 . The method of  claim 16 , wherein accessing at least one set of information for facilitating sample reporting further comprises:
 accessing a plurality of normalized data structures; and   generating at least one sample report based on a combination of data from the plurality of normalized data structures.   
     
     
         20 . The method of  claim 16 , wherein accessing at least one set of information for facilitating sample reporting further comprises:
 accessing a plurality of denormalized data structures; and   generating at least one sample report based on a combination of data from the plurality of denormalized data structures.   
     
     
         21 . A non-transitory computer readable storage medium having instructions stored thereon, the instructions, when executed by one or more processors, cause the processors to perform operations comprising:
 detecting a trigger related to a call review event;   accessing, based on the detected trigger, at least one portion of a denormalized data structure;   transforming the at least one portion of the denormalized data structure into a normalized data structure in response to the accessing;   receiving a user request associated with the at least one portion of the denormalized data structure;   accessing the normalized data structure in response to the user request; and   displaying, on a display screen, data contained within the normalized data structure.   
     
     
         22 . A system for analyzing a plurality of genomic samples, the system comprising:
 a display;   one or more processors; and   a memory storing one or more programs, wherein the one or more programs include instructions configured to be executed by the one or more processors, causing the one or more processors to perform operations comprising:
 detecting a trigger related to a call review event; 
 accessing, based on the detected trigger, at least one portion of a denormalized data structure; 
 transforming the at least one portion of the denormalized data structure into a normalized data structure in response to the accessing; 
 receiving a user request associated with the at least one portion of the denormalized data structure; 
 accessing the normalized data structure in response to the user request; and 
 displaying, on a display screen, data contained within the normalized data structure.